Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000250740 | SCV000319924 | uncertain significance | Cardiovascular phenotype | 2015-07-02 | criteria provided, single submitter | clinical testing | The p.N3869D variant (also known as c.11605A>G), located in coding exon 86 of the RYR2 gene, results from an A to G substitution at nucleotide position 11605. The asparagine at codon 3869 is replaced by aspartic acid, an amino acid with highly similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), Exome Aggregation Consortium (ExAC) and 1000 Genomes Project. In the ESP, this variant was not observed in 5891 samples (11782 alleles) with coverage at this position. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence for this variant is limited at this time, its clinical significance is unclear. |